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Article

Complement component C7 deficiency in a Spanish family.

Clinical and experimental immunology - 1 Aug 2003

Vázquez-Bermúdez M F, Barroso S, Walter K, Alvarez A J, Alarcón A, López-Trascasa M, Wichmann I, Aguilar F, Núñez-Roldán A, Sánchez B

Abstract excerpt

Different genetic mutations have been described in complement component C7 deficiency, a molecular defect which is clinically associated with an increased susceptibility to neisserial recurrent infections, although some cases remain asymptomatic. In this work we report the genetic bases of C7 deficiency in one Spanish family. Exon-specific PCR and sequencing revealed a novel point mutation at nucleotide 615 (exon...

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Identifiers

PMID: 12869030
DOI: 10.1046/j.1365-2249.2003.02186.x
PMCID: PMC1808760

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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